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| Term | X-linked agammaglobulinemia | ID (Ontology) | DOID:14179 (Human Disease) |
| Definition | An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. | ||
| Also Known As | "Bruton agammaglobulinemia tyrosine kinase deficiency" ; "Bruton disease" ; "Bruton's agammaglobulinaemia" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease |__X-linked recessive disease__ B cell deficiency | |__agammaglobulinemia__________| X-linked agammaglobulinemia 1 rec. |
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| Is a |
X-linked recessive disease agammaglobulinemia |
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External Crossreferences & Linkouts
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MESH:C537409 MIM:300755 NCI:C3822 ORDO:47 SNOMEDCT_US_2023_03_01:65880007 UMLS_CUI:C0221026 |
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